Literature DB >> 19305191

Hypertrichosis, hyperkeratosis and mental retardation syndrome: further delineation of phenotype.

Ashwin Dalal1, Rabindera N Mehrotra.   

Abstract

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Year:  2009        PMID： 19305191     DOI： 10.1097/MCD.0b013e32831bef30

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  1 in total

1.  The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.

Authors:  Markus Zweier; Maarit M Peippo; Minna Pöyhönen; Helena Kääriäinen; Anaïs Begemann; Pascal Joset; Beatrice Oneda; Anita Rauch
Journal:  Am J Med Genet A       Date:  2017-03-21       Impact factor: 2.802
  1 in total

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